Variant report

Variant	rs12307514
Chromosome Location	chr12:49607179-49607180
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49523661..49526091-chr12:49606547..49609332,3	MCF-7	breast:
2	chr12:49580930..49584417-chr12:49606768..49610900,5	MCF-7	breast:
3	chr12:49606877..49609072-chr12:49657930..49661818,3	K562	blood:
4	chr12:49606836..49608508-chr12:49621883..49624285,2	K562	blood:
5	chr12:49523197..49525304-chr12:49605553..49607360,2	MCF-7	breast:
6	chr12:49524677..49526390-chr12:49605561..49607383,2	K562	blood:

Variant related genes	Relation type
ENSG00000167553	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000167552	Chromatin interaction
ENSG00000258017	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10219709	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11168898	0.83[AMR][1000 genomes]
rs11168899	0.83[AMR][1000 genomes]
rs11168905	0.83[AMR][1000 genomes]
rs11168913	0.83[AMR][1000 genomes]
rs11168916	0.83[AMR][1000 genomes]
rs11168918	0.83[AMR][1000 genomes]
rs11168923	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12296189	0.83[AMR][1000 genomes]
rs12296265	0.83[AMR][1000 genomes]
rs12298869	0.83[AMR][1000 genomes]
rs12315823	0.83[AMR][1000 genomes]
rs12318970	0.83[AMR][1000 genomes]
rs12321120	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12322965	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61648563	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49592800-49608600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:49596000-49608600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:49606400-49607200	Enhancers	Fetal Brain Male	brain
4	chr12:49606400-49607400	Enhancers	Brain Germinal Matrix	brain
5	chr12:49606400-49608400	Enhancers	Brain Substantia Nigra	brain
6	chr12:49606400-49608600	Enhancers	Brain Hippocampus Middle	brain
7	chr12:49606400-49608800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:49606400-49608800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr12:49606400-49608800	Enhancers	Brain Cingulate Gyrus	brain
10	chr12:49606400-49608800	Enhancers	Fetal Brain Female	brain
11	chr12:49606400-49610200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:49606600-49607200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:49606600-49608400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:49606600-49608600	Enhancers	Brain Angular Gyrus	brain
15	chr12:49606600-49608600	Enhancers	Brain Anterior Caudate	brain
16	chr12:49606600-49608600	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr12:49606600-49608800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:49606600-49608800	Enhancers	HSMMtube	muscle
19	chr12:49606600-49609200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:49606600-49609600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr12:49606600-49610000	Enhancers	NHLF	lung
22	chr12:49606800-49607400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:49606800-49607600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:49606800-49607800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:49606800-49607800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr12:49606800-49608400	Weak transcription	Fetal Lung	lung
27	chr12:49606800-49608400	Weak transcription	Fetal Stomach	stomach
28	chr12:49606800-49608600	Enhancers	Colon Smooth Muscle	Colon
29	chr12:49606800-49608600	Enhancers	HSMM	muscle
30	chr12:49606800-49609400	Enhancers	A549	lung
31	chr12:49606800-49609400	Enhancers	NHDF-Ad	bronchial
32	chr12:49607000-49607800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:49607000-49608400	Weak transcription	Fetal Muscle Leg	muscle

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